MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Rett Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241 2017
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation BEFREE Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons. 28920956 2017
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation BEFREE Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism. 20098342 2010
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.840 GeneticVariation CLINVAR Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism. 20098342 2010
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation BEFREE Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length. 19217433 2009
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.840 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation BEFREE Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties. 18499664 2008
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 17296936 2007
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.840 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578 2007
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 12966522 2003
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523 2003
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420 2003
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512 2001
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 11376998 2001
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.840 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512 2001
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883 2001
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. 11706982 2001
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 11283202 2001
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT MeCP2 mutations in children with and without the phenotype of Rett syndrome. 11402105 2001
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.840 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337 2000
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898 2000
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689 2000
dbSNP: rs28934907
rs28934907
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.840 GeneticVariation UNIPROT Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337 2000